FGFR1, fibroblast growth factor receptor 1, 2260

N. diseases: 816; N. variants: 119
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms Congenital Abnormality 1 17 0.750 strong 0.889 9 17 2003 2019
CUI: C1333286
Disease: Diencephalic Neoplasm
Diencephalic Neoplasm
disease Neoplasms; Nervous System Diseases Neoplastic Process 1 1 0.010 None 1.000 1 1 2014 2014
Squamous cell (epidermoid) carcinoma
disease Neoplastic Process 1 0.010 None 1.000 1 2016 2016
CUI: C0432149
Disease: Lumbar hemivertebra
Lumbar hemivertebra
disease Congenital Abnormality 1 0.100 None 0
HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA
disease Finding 1 11 0.100 None 0 11
CUI: C0334067
Disease: Non-Ossifying Fibroma
Non-Ossifying Fibroma
disease Neoplasms Neoplastic Process 2 0.010 None 1.000 1 2019 2019
CUI: C0855056
Disease: Metastatic leiomyosarcoma
Metastatic leiomyosarcoma
disease Neoplasms Neoplastic Process 2 0.010 None 1.000 1 2017 2017
CUI: C1336733
Disease: Thalamic Neoplasm
Thalamic Neoplasm
disease Neoplastic Process 2 0.010 None 1.000 1 2014 2014
Cutis Gyrata Syndrome of Beare And Stevenson
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 2 16 0.300 strong 1.000 1 2003 2003
Phosphaturic mesenchymal tumor, malignant
disease Neoplasms Neoplastic Process 2 0.010 None < 0.001 1 2019 2019
CUI: C1845147
Disease: Hypoplasia of the frontal bone
Hypoplasia of the frontal bone
phenotype Finding 2 0.100 None 0
CUI: C1863363
Disease: Cartilaginous trachea
Cartilaginous trachea
phenotype Finding 2 0.100 None 0
CUI: C2931888
Disease: Pfeiffer type acrocephalosyndactyly
Pfeiffer type acrocephalosyndactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 2 0.300 None 0
CUI: C4024730
Disease: Calcaneonavicular fusion
Calcaneonavicular fusion
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 2 0.100 None 0
CUI: C4025069
Disease: Multiple unerupted teeth
Multiple unerupted teeth
phenotype Stomatognathic Diseases Finding 2 0.100 None 0
CUI: C4025680
Disease: Abnormal cartilage morphology
Abnormal cartilage morphology
phenotype Anatomical Abnormality 2 0.100 None 0
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 3 20 0.710 strong 1.000 4 3 2000 2017
Phosphaturic mesenchymal tumor, benign
disease Neoplastic Process 3 0.030 None 1.000 3 2015 2016
CUI: C0178829
Disease: reproductive system disorder
reproductive system disorder
group Pathological Conditions, Signs and Symptoms Disease or Syndrome 3 0.010 None 1.000 1 2010 2010
CUI: C1864436
Disease: Muenke Syndrome
Muenke Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 3 11 0.010 None 1.000 1 1 2017 2017
CUI: C2698204
Disease: Metastatic Lobular Breast Carcinoma
Metastatic Lobular Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 3 0.010 None 1.000 1 2012 2012
CUI: C2985175
Disease: Extraventricular neurocytoma
Extraventricular neurocytoma
disease Neoplastic Process 3 0.010 None 1.000 1 2018 2018
CUI: C4023161
Disease: Abnormal bone ossification
Abnormal bone ossification
disease Anatomical Abnormality 3 0.100 None 0
Rosette-forming glioneuronal neoplasm
disease Neoplastic Process 3 2 0.100 None 0 1
CUI: C0206504
Disease: Tympanic Membrane Perforation
Tympanic Membrane Perforation
disease Otorhinolaryngologic Diseases; Wounds and Injuries Injury or Poisoning 4 0.200 None 1.000 1 2012 2012